Novel PORCN mutations in focal dermal hypoplasia

Clinical Genetics

Volumn 76, Issue 6, 2009, Pages 535-543

  Froyen, G ^a,b   Govaerts, K ^a,b   Van Esch, H ^c   Verbeeck, J ^a,b   Tuomi, M L ^d   Heikkila H ^e   Torniainen, S ^f   Devriendt, K ^c   Fryns, J P ^c   Marynen, P ^a,b   Jarvela I ^f,g   Ala Mello, S ^e  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

^g Laboratory of Molecular Genetics   (Finland)

Author keywords

FDH; Goltz syndrome; PORCN; X linked dominant

Indexed keywords

GENE PRODUCT; PROTEIN PORCN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BELGIUM; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; FEMALE; FINLAND; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GOLTZ SYNDROME; HETEROZYGOSITY; HUMAN; METHYLATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; X CHROMOSOME;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOCAL DERMAL HYPOPLASIA; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE;

EID: 70749140397     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01248.x     Document Type: Article

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